supporting image

Neurogenetics

Genetic testing is profoundly personal.

Our extensive portfolio of tests and services spans screening, diagnostic and drug development needs for genetic testing across the healthcare continuum. Together, we can leverage the power of genetic advancements to reshape healthcare, drive the development of targeted therapies and expand access to personalized treatments that enhance patient outcomes.

Our broad test menu, expert support, accessible testing services and capabilities are all designed to meet your needs for genetic testing.

Alzheimer's disease and dementias

Number Name
125536 APOE Alzheimer's Disease Risk
620017 C9orf72 Genetic Testing (Repeat Expansion)
630557 Early Onset Alzheimer's NGS Diagnostic Test
630000 GeneSeq® Neuro: CARASIL/CADASIL Panel

Epilepsy

Number Name
630550 Clinical Epilepsy NGS Panel
630268 Comprehensive Epilepsy NGS Panel
511236 SCN1A Sequencing, Full Gene

General neurology

Number Name
630730 GeneSeq® Neuro: Hypokalemic and Hyperkalemic Periodic Paralysis Panel
630700 GeneSeq® Neuro: Malignant Hyperthermia Susceptibility Panel
630906 NF2 Single Gene Analysis

Neuromuscular/movement disorders

Number Name
620017 C9orf72 Genetic Testing (Repeat Expansion)
630729 GeneSeq® Neuro: Hereditary Sensory and Autonomic Neuropathy Panel
630762 GeneSeq® Neuro: Limb-Girdle and Emery-Dreifuss Muscular Dystrophies
482466 GeneSeq® PLUS, DMD
620016 Huntington Disease (HTT) Genetic Testing (Repeat Expansion)
630654 LRRK2 Single Gene Analysis
620084 Myotonic Dystrophy 1 (DMPK) Genetic Testing (Repeat Expansion)
620087 Myotonic Dystrophy 2 (ZNF9/CNBP) Genetic Testing (Repeat Expansion)
630691 SOD1 Single Gene Analysis

Pediatric neurology

Number Name
630628 Comprehensive Hearing Loss NGS Panel + mtDNA
481701 Fragile X Syndrome, Diagnostic
630732 GeneSeq® Neuro: Charcot-Marie-Tooth Disease Panel
630019 GeneSeq® Neuro: Tuberous Sclerosis Panel
630792 MECP2 Single Gene Analysis
630643 PMP22 Full Gene Sequencing (no CNV)
620081 PMP22 MLPA Deletion/Duplication Analysis
510002 SNP Microarray−Pediatric (Reveal®)
481630 Spinal Muscular Atrophy (SMA)

Spinocerebellar ataxia

Number Name
620167 Comprehensive Spinocerebellar Ataxia Repeat Expansion Panel
620077 Friedreich Ataxia Genetic Testing (Trinucleotide Repeat Expansion)
620114 SCA1 (ATXN1) Genetic Testing (Repeat Expansion)
620140 SCA10 (ATXN10) Genetic Testing (Repeat Expansion)
620144 SCA12 (PPP2R2B) Genetic Testing (Repeat Expansion)
620149 SCA17 (TBP) Genetic Testing (Repeat Expansion)
620118 SCA2 (ATXN2) Genetic Testing (Repeat Expansion)
620123 SCA3 (ATXN3) Genetic Testing (Repeat Expansion)
620154 SCA36 (NOP56) Genetic Testing (Repeat Expansion)
620127 SCA6 (CACNA1A) Genetic Testing (Repeat Expansion)
620131 SCA7 (ATXN7) Genetic Testing (Repeat Expansion)
620135 SCA8 (ATXN8) Genetic Testing (Repeat Expansion)